RESUMEN

A 61-year-old Ghanaian woman presented with dizziness and low oxygen saturations whereupon a methaemoglobin level of 24.9% was obtained. Initially it was thought to be caused by an unknown toxin. However, failure to normalise spontaneously and a short recurrence following administration of methylene blue suggested a congenital cause. Subsequently a novel variant in the CYB5R3 gene, coding for Cytochrome b5 reductase, was demonstrated. Absence of polycythaemia prompted additional analysis for a concomitant haemoglobinopathy.

Asunto(s)

Citocromo-B(5) Reductasa/deficiencia , Citocromo-B(5) Reductasa/genética , Metahemoglobina/metabolismo , Metahemoglobinemia/congénito , Metahemoglobinemia/genética , Femenino , Humanos , Metahemoglobinemia/diagnóstico , Persona de Mediana Edad